Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 14 | 67729220 | missense variant | C/G | snv |
|
Eye Diseases | 0.800 | 1.000 | 2 | 2004 | 2004 | ||||||||
|
1.000 | 0.040 | 14 | 67729209 | splice donor variant | A/G | snv | 7.0E-06 |
|
Eye Diseases | 0.800 | 1.000 | 2 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 14 | 67766404 | missense variant | C/T | snv | 8.8E-05 | 9.1E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.720 | 1.000 | 2 | 2011 | 2011 | ||||||
|
0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 |
|
Eye Diseases | 0.700 | 1.000 | 5 | 2005 | 2015 | |||||||
|
0.925 | 0.080 | 14 | 67729248 | missense variant | G/A;T | snv | 8.1E-06; 4.0E-06 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||||
|
14 | 67783217 | stop gained | G/T | snv | 4.0E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | |||||||||
|
0.925 | 0.160 | 14 | 67786112 | splice donor variant | A/C | snv | 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2008 | 2009 | |||||||
|
0.925 | 0.160 | 14 | 67809291 | splice acceptor variant | T/C | snv | 5.2E-05 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2008 | 2009 | ||||||
|
0.925 | 0.160 | 14 | 67783020 | stop gained | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||||
|
1.000 | 0.120 | 14 | 67752520 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
1.000 | 0.120 | 14 | 67798080 | stop gained | G/A;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2015 | |||||||
|
1.000 | 0.120 | 14 | 67754069 | splice donor variant | A/T | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.120 | 14 | 67797750 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.120 | 14 | 67782840 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.120 | 14 | 67775866 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.080 | 14 | 67776358 | intron variant | C/A | snv | 0.62 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 14 | 67776358 | intron variant | C/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 14 | 67776358 | intron variant | C/A | snv | 0.62 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.080 | 14 | 67776358 | intron variant | C/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 14 | 67762275 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 14 | 67807692 | stop gained | G/A | snv | 8.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.160 | 14 | 67782971 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.160 | 14 | 67782971 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 1981 | 1981 | ||||||
|
0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 |
|
0.700 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.080 | 14 | 67729337 | frameshift variant | CCCTG/- | delins | 9.1E-05 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2004 | 2004 |